Canonical Allele Identifier: CA224075550

Gene: ACTN3

Linked Data

• dbSNP Id: rs577316394
• gnomAD v4: 11-66560289-T-G
• MyVariant Identifiers: chr11:g.66327760T>G (hg19) ; chr11:g.66560289T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560289T>G , CM000673.2:g.66560289T>G	GRCh38
NC_000011.9:g.66327760T>G , CM000673.1:g.66327760T>G	GRCh37
NC_000011.8:g.66084336T>G	NCBI36
NG_013304.2:g.18370T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1655T>G MANE Select	ENSP00000426797.1:p.Val552Gly
ENST00000502692.5:c.1784T>G	ENSP00000422007.1:p.Val595Gly
ENST00000513398.1:c.1655T>G	ENSP00000426797.1:p.Val552Gly
NM_001104.3:c.1655T>G	NP_001095.2:p.Val552Gly
NM_001258371.2:c.1784T>G	NP_001245300.2:p.Val595Gly
NM_001104.4:c.1655T>G MANE Select	NP_001095.2:p.Val552Gly
NM_001258371.3:c.1784T>G	NP_001245300.2:p.Val595Gly